Disease ID | Disease name | Source of annotation with MVD | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
PS175800 | POROKERATOSIS | OMIM, HUMSAVAR | link to OMIM | 6 | MVD, FDPS, MVK, SLC17A9, SART3, PMVK |
Download the gene annotation in CSV format
KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
Terpenoid backbone biosynthesis | hsa00900 | 8.31 |
Metabolic pathways | hsa01100 | 2.49 |
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Cholesterol biosynthesis | R-HSA-191273 | 8.46 |
Synthesis of substrates in N-glycan biosythesis | R-HSA-446219 | 7.28 |
Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein | R-HSA-446193 | 6.92 |
Regulation of cholesterol biosynthesis by SREBP (SREBF) | R-HSA-1655829 | 7.23 |
Metabolism of proteins | R-HSA-392499 | 3.41 |
Synthesis of Dolichyl-phosphate | R-HSA-446199 | 10.66 |
Asparagine N-linked glycosylation | R-HSA-446203 | 6.1 |
Metabolism | R-HSA-1430728 | 2.34 |
Activation of gene expression by SREBF (SREBP) | R-HSA-2426168 | 7.62 |
Metabolism of lipids and lipoproteins | R-HSA-556833 | 3.79 |
Post-translational protein modification | R-HSA-597592 | 4.54 |
GO term | GO ID | GO IC |
---|---|---|
purine ribonucleoside triphosphate binding | GO:0035639 | 2.22 |
heat shock protein binding | GO:0031072 | 5.24 |
binding | GO:0005488 | 0.18 |
heterocyclic compound binding | GO:1901363 | 1.06 |
purine nucleoside binding | GO:0001883 | 2.22 |
nucleoside binding | GO:0001882 | 2.21 |
Hsp70 protein binding | GO:0030544 | 6.37 |
lyase activity | GO:0016829 | 4.53 |
nucleotide binding | GO:0000166 | 1.96 |
nucleoside phosphate binding | GO:1901265 | 1.96 |
ribonucleoside binding | GO:0032549 | 2.22 |
purine nucleotide binding | GO:0017076 | 2.19 |
identical protein binding | GO:0042802 | 2.63 |
protein homodimerization activity | GO:0042803 | 3.16 |
diphosphomevalonate decarboxylase activity | GO:0004163 | 9.74 |
small molecule binding | GO:0036094 | 1.89 |
catalytic activity | GO:0003824 | 1.05 |
adenyl nucleotide binding | GO:0030554 | 2.4 |
carbohydrate derivative binding | GO:0097367 | 2.03 |
organic cyclic compound binding | GO:0097159 | 1.05 |
carbon-carbon lyase activity | GO:0016830 | 5.81 |
carboxy-lyase activity | GO:0016831 | 6.15 |
adenyl ribonucleotide binding | GO:0032559 | 2.41 |
ATP binding | GO:0005524 | 2.43 |
protein binding | GO:0005515 | 0.46 |
purine ribonucleotide binding | GO:0032555 | 2.2 |
protein dimerization activity | GO:0046983 | 2.72 |
purine ribonucleoside binding | GO:0032550 | 2.22 |
ribonucleotide binding | GO:0032553 | 2.19 |